Maple syrup urine disease (MSUD)
Hereditary disease due to deficiency of an enzyme involved in amino acid metabolism, characterized by urine that smells like maple syrup.

Medical dictionary. 2011.

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  • Maple syrup urine disease — Classification and external resources Isoleucine (pictured above), leucine, and valine are the branched chain amino acids that build up in MSUD. ICD …   Wikipedia

  • maple syrup urine disease — ma·ple syr·up urine disease mā pəl sər əp , sir əp n a hereditary aminoaciduria caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid …   Medical dictionary

  • MSUD — maple syrup urine disease * * * maple syrup urine disease …   Medical dictionary

  • MSUD — • maple syrup urine disease …   Dictionary of medical acronyms & abbreviations

  • MSUD — biomed. abbr. Maple Syrup Urine Disease …   United dictionary of abbreviations and acronyms

  • metabolic disease — ▪ pathology Introduction       any of the diseases or disorders that disrupt normal metabolism, the process of converting food to energy on a cellular (cell) level. Thousands of enzymes participating in numerous interdependent metabolic pathways… …   Universalium

  • BCKDHB — Branched chain keto acid dehydrogenase E1, beta polypeptide (maple syrup urine disease), also known as BCKDHB, is a human gene.cite web | title = Entrez Gene: BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide (maple syrup urine… …   Wikipedia

  • BCKDHA — Branched chain keto acid dehydrogenase E1, alpha polypeptide, also known as BCKDHA, is a human gene.cite web | title = Entrez Gene: BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide| url =… …   Wikipedia

  • Newborn screening — See also: Apgar score Newborn screening Intervention MeSH D015997 Newborn screening is the process by which infants are screened shortly after birth for a list of disorders that are treatable, but di …   Wikipedia

  • Clinic for Special Children — The Clinic for Special Children is a gene research clinic located in Strasburg, Pennsylvania. The facility, established by Dr. D. Holmes Morton, specializes in genetic problems of the plain sects such as the Amish and Old Order Mennonites. Clinic …   Wikipedia

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